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Brain & Heart                                                           AI in biomarker discovery for CVDs




            Table 1. Example of various classes of CVD biomarkers a  The intricacies of human diseases and the inherent
                                                               shortcomings of diagnostics reliant on single markers
            Biomarker       Examples          Application      highlight the need for a more comprehensive approach.
            type
            Proteins     BNP, NT-proBNP,   Heart failure, myocardial   A  multi-analyte  approach  can  provide  significant
                         troponin         infarction           advantages over  traditional  single-analyte  strategies
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            Non-coding   miRNAs (e.g.,    Early markers for acute   for disease diagnosis and prognosis.  Integrating these
            RNAs         miR-208, miR-499)  coronary syndromes  biomarkers into clinical practice presents significant
            Cellular DNA  Circulating cell-free   Reflects tissue injury  challenges, necessitating standardized protocols and
                         DNA                                   comprehensive validation studies. An integrated approach
            Metabolic    Lipoprotein (a),   Metabolic changes,   promises to transform precision medicine by offering
            markers      homocysteine     atherosclerosis      deeper  insights  into  disease  mechanisms,  enabling
            Inflammatory   CRP, IL-6      Inflammation associated   early  detection,  and  facilitating  personalized  treatment
            markers                       with CVDs            strategies. The combined use of circulating miRNAs with
                a
            Note:  Data were obtained from ref. 6              other biomarkers offers a valuable path for thorough disease
            Abbreviations: BNP: B-type natriuretic peptide; CRP: C-reactive   management.  Furthermore, the  emergence  of AI  and
            protein; CVDs: Cardiovascular diseases; NT-proBNP: N-terminal pro   machine learning (ML) could markedly boost these efforts.
            B-type natriuretic peptide; IL: Interleukin;  IL-6: Interleukin-6.
                                                               Integrating AI into medical research could revolutionize
                                                               the diagnosis, optimization of treatment strategies, and
            miRNAs and other novel biomarkers reflects the dynamic
            nature of research in this field, creating new pathways for   refinement of prognosis predictions. AI’s ability to process
            early diagnosis and tailored therapeutic approaches. Omics   complex, multidimensional data significantly enhances
            technologies have dramatically transformed biomarker   the accuracy of early detection and the personalization of
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            discovery.   These  advanced platforms  facilitate high-  treatment plans.
                    10
            throughput profiling of a broad spectrum of biological   AI is profoundly transforming various fields, including
            molecules across diverse cellular and tissue states. Capable   healthcare, where its impact on biomarker discovery for
            of measuring millions of features, including genotypes,   CVDs is notable. Biomarkers are essential for diagnosing,
            epigenetic states, and the levels of RNAs, proteins, and   predicting, and monitoring diseases, and AI’s capacity
            metabolites, omics technologies have broadened the   to process large datasets and identify complex patterns
            horizon for identifying novel biomarkers.          significantly enhances these processes.
              However, despite these advanced capabilities, the   AI technologies, such as natural language processing,
            pathway from potential biomarkers to clinically validated   ML, rule-based expert systems, robotic process
            ones present significant challenges.  Only a few biomarkers   automation, and physical robots, offer distinctive
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            have achieved the level of robustness required for definitive   capabilities ranging from predictive modeling and disease
            analytical and clinical application, emphasizing the need   detection to improving surgical accuracy and automating
            for rigorous validation processes to ensure their efficacy   administrative functions. Integrating AI into healthcare is
            and reliability in clinical settings. Transitioning biomarkers   poised to enhance diagnostic precision, support decision-
            from research to clinical use requires ongoing innovation   making, and refine treatment plans, which could reduce
            and rigorous validation. This process is critical to ensuring   medical errors and elevate patient outcomes. 13
            that new discoveries translate into tangible benefits for   The complexity of human diseases, particularly CVDs,
            patient  care,  thereby  maximizing  the  impact  of  omics   necessitates a sophisticated approach to biomarker
            technologies in cardiovascular health.             discovery. Traditional single-marker diagnostics are often
            3. Revolutionizing biomarker discovery for         insufficient due to the multifaceted nature of CVDs, which
                                                               arise from genetic, environmental, and lifestyle factors. AI’s
            CVDs with artificial intelligence (AI)             ability to sift through extensive datasets – including genetic
            As previously mentioned, despite the potential of   information, electronic health records, and lifestyle data
            biomarkers, particularly miRNAs, as diagnostic, prognostic,   – allows for the discernment of patterns and correlations
            and therapeutic tools in CVDs, several challenges hinder   indicative of potential biomarkers. This capability is crucial
            their clinical application. A  major obstacle in miRNA   for developing predictive models that improve disease
            biomarker discovery and validation is the biological   progression analysis and enable personalized treatments.
            complexity of  disease  pathogenesis.  Technical  issues,   Integrating omics with AI technologies furthers the
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            such as the lack of standardization in sampling, processing,   identification of risk markers for diseases such as heart
            and storage of samples, further complicate this process.   failure, assists in monitoring care, determines prognosis, and


            Volume 3 Issue 3 (2025)                         3                                doi: 10.36922/bh.8442
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